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Določitev mutacij W515L in W515K v trombopoetinskem receptorju pri bolnikih z esencialno trombocitemijo = The thrombopoietin receptor W515L and W515K mutations detection in patients with essential thrombocythemiaPajič, Tadej ; Kovačič, Leonida ; Mlakar, Uroš, 1948-Izhodišča: Namen naše raziskave je bil ugotoviti pojavnost mutacij W515L in W515K v trombopoetinskem receptorju (MPL) pri bolnikih z esencialno trombocitemijo (ET) in negativnim izsledkom za ... prisotnost somatske mutacije JAK2 V617F. Smatramo, da se pojavnost obeh mutacij v naši raziskavi ne bo bistveno razlikovala od pojavnosti, objavljene v literaturi. Metode: V raziskavo smo vključili 77 bolnikov z ET (59 žensk in 18 moških) in negativnimizsledkom za prisotnost somatske mutacije JAK2 V617F. Mediana starosti bolnikov je bila 48 let, razpon od 18 do 89 let. Granulocite smo osamili z gostotnim gradientnim centrifugiranjem vzorcev periferne krvi preko fikola ter z liziranjem eritrocitov. DNA smo osamili z reagenčnim kompletom QIAamp DNA Mini Kit (Qiagen, ZDA). Mutaciji MPL W515L in MPL W515K smo določili z reagenčnim kompletom podjetja Ipsogen (Francija) z načinom kvantitativne verižne reakcije s polimerazo (qPCR) in alelne diskriminacije. Rezultati: Prisotnost mutacije MPL W515L smo ugotovili pri 4 % bolnikov z ET (N = 3). Prisotnost mutacije MPL W515K v 2 % (N = 1). Obe mutaciji se skupno pojavljata pri 5 % bolnikov z ET, ki smo jih vključili v raziskavo (N = 77). Zaključki: Pogostost pojavljanja mutacij MPL W515L/K v naši raziskavi je podobna pogostosti iz drugih raziskav. Tudi v naši raziskavi se mutacija MPL W5151L pogosteje pojavi kot mutacija MPL W515K. Smatramo, da je preiskava primerna za redno uporabo v laboratoriju in jo je smiselno opraviti pri bolnikih z ET in negativnim izsledkom za prisotnost somatske mutacije JAK2 V617F.Source: 4. kongres hematologov in transfuziologov Slovenije (Letn. 81, suppl., nov. 2012, str. II-180-II-187)Type of material - conference contributionPublish date - 2012Language - slovenianCOBISS.SI-ID - 698284
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source: 4. kongres hematologov in transfuziologov Slovenije (Letn. 81, suppl., nov. 2012, str. II-180-II-187)
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Database name | Field | Year |
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Pajič, Tadej | 23818 |
Kovačič, Leonida | ![]() |
Mlakar, Uroš, 1948- | 23120 |
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